{"orpha":227,"name":"Diphallia","type":"Morphological anomaly","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare, non-syndromic, urogenital tract malformation characterized by complete or partial penile duplication, ranging from only glans duplication to the presence of two penis shafts with either one (i.e. bifid phallus) or two (i.e. true diphallia) corpora cavernosum in each. Additional anomalies, such as urethra duplication, an abnormal voiding pattern, hypo- or epispadias, bifid/ectopic scrotum, bladder exstrophy or duplication, are frequently associated, but it may also present as an isolated anomaly. In severe cases, pubic symphysis diastasis, imperforate or duplicated anus, colon/ rectosigmoidal duplication, inguinal hernia and vertebral anomalies may be observed.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-227/","orphanet_url":"https://www.orpha.net/en/disease/detail/227","names":{"fr":{"name":"Diphallie","definition":"Malformation urogénitale non syndromique rare caractérisée par une duplication totale ou partielle du pénis, allant de la simple duplication du gland à la présence de deux pénis avec un (pénis bifide) ou deux (vraie diphallie) corps caverneux au sein de chaque pénis. D'autres anomalies, telles qu'une duplication de l'urètre, des troubles mictionnels, un hypo- ou épispadias, un scrotum ectopique/bifide, une exstrophie ou une duplication de la vessie, sont fréquemment associées, mais la diphallie peut aussi se manifester de manière isolée. Dans les cas sévères, un diastasis de la symphyse pubienne, une imperforation ou duplication anale, une duplication du côlon/rectosigmoïde, une hernie inguinale et des anomalies vertébrales peuvent être observées."},"de":{"name":"Diphallie","definition":"Eine seltene, nicht-syndromale Fehlbildung des Urogenitaltrakts, die durch eine vollständige oder teilweise Verdoppelung des Penis gekennzeichnet ist, die von einer reinen Eichelverdoppelung bis hin zum Vorhandensein von zwei Penisschäften mit jeweils einem (d. h. bifidem Phallus) oder zwei (d. h. echten Diphallien) Schwellkörpern reicht. Zusätzliche Anomalien, wie z. B. Harnröhrenduplikation, abnormes Entleerungsmuster, Hypo- oder Epispadie, bifides/ektopisches Skrotum, Blasenexstrophie oder -duplikation, sind häufig assoziiert, können aber auch als isolierte Anomalie auftreten. In schweren Fällen können eine Diastase der Schambeinfuge, eine Analatresie oder ein doppelter Anus, eine Dickdarm-/Rektosigmoidalverdoppelung, ein Leistenbruch und Wirbelanomalien beobachtet werden."},"es":{"name":"Difalia","definition":"Es una malformación no sindrómica del tracto urogenital poco frecuente caracterizada por una duplicación completa o parcial del pene, que varía desde la duplicación del glande hasta la presencia de dos ejes del pene con uno (falo bífido) o dos (difalia verdadera) cuerpos cavernosos en cada uno de ellos. Con frecuencia asocia anomalías adicionales, tales como duplicación de la uretra, un patrón de micción anómalo, hipo- o epispadias, escroto bífido / ectópico y extrofia o duplicación de la vejiga, aunque también puede presentarse como una anomalía aislada. En casos graves, pueden observarse diástasis de la sínfisis púbica, ano imperforado o duplicado, duplicación de colon / rectosigmoidea, hernia inguinal y anomalías vertebrales."},"it":{"name":"Difallia","definition":"È una malformazione non sindromica rara del tratto urogenitale, caratterizzata dalla duplicazione completa o parziale del pene, che comprende la sola duplicazione del glande, fino alla presenza di due aste del pene con uno (fallo bifido) o due (difallia vera) corpi cavernosi in ciascuna asta. Può essere isolata, ma spesso si associa ad altre anomalie, come la duplicazione dell'uretra, le anomalie dello svuotamento, l'ipo/epispadia, lo scroto bifido/ectopico, e l'estrofia o la duplicazione della vescica. Nei casi più gravi, può associarsi a diastasi della sinfisi pubica, ano imperforato o duplicato, duplicazione del colon/tratto retto-sigmoideo, ernia inguinale ed anomalie vertebrali."},"nl":{"name":"Diphallus","synonyms":["Peniele duplicatie"],"definition":"Een zeldzame, niet-syndromale malformatie van het urinewegstelsel die gekarakteriseerd wordt door volledige of gedeeltelijke peniele duplicatie, gaande van enkel duplicatie van de eikel tot de aanwezigheid van twee penisschachten met elk één (i.e. bifide fallus) of twee (i.e. ware diphallus) zwellichamen. Bijkomende anomalieën, zoals duplicatie van de urinebuis, een abnormaal patroon van lozing, hypo- of epispadieën, bifide/ectopisch scrotum, en extrofie of duplicatie van de blaas, zijn frequent geassocieerd, maar het kan ook aanwezig zijn als een geïsoleerde anomalie. In ernstige gevallen kunnen diastasis symphysis pubis (schaambeenvoeg), atresie of duplicatie van de anus, duplicatie van colon/rectosigmoïd, hernia inguinalis en anomalieën van de wervels waargenomen worden."},"pt":{"name":"Difallus"},"pl":{"name":"Zdwojenie prącia"},"cs":{"name":"Difalie"},"uk":{"name":"Дифалія","definition":"A rare, non-syndromic, urogenital tract malformation characterized by complete or partial penile duplication, ranging from only glans duplication to the presence of two penis shafts with either one (i.e. bifid phallus) or two (i.e. true diphallia) corpora cavernosum in each. Additional anomalies, such as urethra duplication, an abnormal voiding pattern, hypo- or epispadias, bifid/ectopic scrotum, bladder exstrophy or duplication, are frequently associated, but it may also present as an isolated anomaly. In severe cases, pubic symphysis diastasis, imperforate or duplicated anus, colon/ rectosigmoidal duplication, inguinal hernia and vertebral anomalies may be observed."},"zh":{"name":"双阴茎畸形"},"tr":{"name":"Difallia"}},"xrefs":[{"source":"ICD-10","code":"Q55.6","qualifier":"NTBT","icd_relation":"index","validated":true},{"source":"ICD-11","code":"LB5Y","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1465839134"},{"source":"MONDO","code":"0016416","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0345322","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"1872","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":182121,"name":"Non-syndromic urogenital tract malformation of male","classifications":[147,185,233]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Prevalence at birth","qualification":"Value and class","class":"<1 / 1 000 000","value":0.02,"area":"Worldwide","status":"Not yet validated","source":"23056729[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"23056729[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-06","source":"26610674[PMID]_15764263[PMID]_26114007[PMID]_25115674[PMID]_25004320[PMID]_24383036[PMID]_25004320[PMID]_23413289[PMID]_23056874[PMID]_23056729[PMID]_18947662[PMID]_5846196[PMID]_21959003[PMID]_15764263[PMID]_2316091[PMID]_20510229[PMID]_10481971[PMID]","terms":[{"hpo":"HP:0000119","label":"Abnormality of the genitourinary system","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100599","label":"Bifid penis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000048","label":"Bifid scrotum","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002023","label":"Anal atresia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008706","label":"Distal urethral duplication","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030275","label":"Ectopic scrotum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000047","label":"Hypospadias","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100600","label":"Penoscrotal transposition","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001627","label":"Abnormal heart morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008669","label":"Abnormal spermatogenesis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011024","label":"Abnormality of the gastrointestinal tract","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003172","label":"Abnormality of the pubic bone","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001631","label":"Atrial septal defect","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002836","label":"Bladder exstrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010475","label":"Cloacal exstrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000039","label":"Epispadias","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011140","label":"Gastrointestinal duplication","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000085","label":"Horseshoe kidney","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000023","label":"Inguinal hernia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000075","label":"Renal duplication","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004712","label":"Renal malrotation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000073","label":"Ureteral duplication","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009777","label":"Absent thumb","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0003316","label":"Butterfly vertebrae","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0005223","label":"Duplicated colon","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002937","label":"Hemivertebrae","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0004792","label":"Rectoperineal fistula","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Very rare (<4-1%)","criteria":null}]}}